Hypomyelination with atrophy of basal ganglia and cerebellum
Other Names for this Disease
- Leukodystrophy, hypomyelinating, 6
- Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum
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 These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better. Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum. H-ABC is is caused by a mutation in the TUBB4A gene.Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems.
Last updated: 11/13/2014
- Schiffmann R, van der Knaap MS. The latest on leukodystrophies. Current opinion in neurology. 2004; 17:187-192. http://www.ncbi.nlm.nih.gov/pubmed/15021247. Accessed 3/27/2012.
- Leukodystrophy, Hypomyelinating, 6; HLD6. OMIM. 2014; http://omim.org/entry/612438. Accessed 11/13/2014.
- Wakusawa K, Haginoya K, Kitamura T, Togashi N, Ishitobi M, Yokoyama H, Higano S, Onuma A, Nara T, Iinuma K. Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. Tohoku Journal of Experimental Medicine. 2006; 209:163-167. http://www.ncbi.nlm.nih.gov/pubmed/16707859. Accessed 3/28/2012.
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